R150P (p.Arg150Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
R150P (p.Arg150Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
R150P (p.Arg150Pro) variant details
- p.Arg150Pro
- ExAC rs760710835
- TOPMed rs760710835
- gnomAD rs760710835
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.26
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available